Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	4634
Gene name	Myosin light chain 3
Gene symbol	MYL3
Synonyms (NCBI Gene)	CMH8MLC-lV/sbMLC1SBMLC1VVLC1VLCl
Chromosome	3
Chromosome location	3p21.31
Summary	MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypert

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893748	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893749	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893750	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139794067	G>A,C,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145520567	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150634297	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199474703	C>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs199474705	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199474706	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199474707	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs567723663	G>A,C	Likely-pathogenic	Intron variant
rs730880162	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs730880954	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730880955	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs730880960	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs730880962	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs869025485	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869025486	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793448	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1427839320	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	IMP	16675844
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003785	Function	Actin monomer binding	IDA	16675844
GO:0005509	Function	Calcium ion binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	TAS	2789520
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	ISS	16675844
GO:0006942	Process	Regulation of striated muscle contraction	IMP	16675844
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	2789520
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0031672	Component	A band	IDA	16675844
GO:0031674	Component	I band	IDA	16675844
GO:0032038	Function	Myosin II heavy chain binding	NAS	16675844
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	8673105, 16754800
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	16675844

MIM	HGNC	e!Ensembl
160790	7584	ENSG00000160808

P08590

Protein name

Myosin light chain 3 (Cardiac myosin light chain 1) (CMLC1) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin alkali light chain) (Ventricular myosin light chain 1) (VLCl) (Ventricular/slow twitch myosin alkali

Protein function

Regulatory light chain of myosin. Does not bind calcium.

PDB

5TBY , 8ACT , 8G4L

Family and domains

Sequence

MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFML
FDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQH
ISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSN
GCINYEAFVKHIMSS

Sequence length

195

Interactions

View interactions

718

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Likely pathogenic; Pathogenic	rs199474703	RCV000769168
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs104893748, rs199474703	RCV004018632 RCV003162261
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs730880162, rs104893748, rs199474703	RCV003447508 RCV000168418 RCV000824445
Hypertrophic cardiomyopathy 8	Likely pathogenic; Pathogenic	rs104893748, rs199474703	RCV000015105 RCV000491596
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs199474703	RCV001290568

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amyloidosis, hereditary systemic 1	Conflicting classifications of pathogenicity	rs199639940	RCV000852967
Cardiomyopathy, familial restrictive, 1	Uncertain significance	rs104893749	RCV000491772
Dilated cardiomyopathy 1U	Conflicting classifications of pathogenicity	rs1282347222	RCV005860310
Hypertrophic cardiomyopathy 1	Uncertain significance	rs377026344	RCV001256743
Increased left ventricular wall thickness	Conflicting classifications of pathogenicity	rs199474707	RCV000148717
Long QT syndrome	Uncertain significance	rs139794067	RCV003318341
Melanoma	Uncertain significance	rs750826728	RCV005931987
MERRF syndrome	Uncertain significance	rs139794067	RCV005862735
MYL3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs1353091311, rs202234617, rs201138698, rs148365503, rs1701968895, rs104893750, rs780500137, rs397516280, rs138567316, rs199474707, rs193922391, rs139794067	RCV004753409 RCV003917515 RCV003947707 RCV003939918 RCV003391287 RCV003407333 RCV003950213 RCV003954577 RCV003897847 RCV004730856 RCV004752726 RCV004752733
Restrictive cardiomyopathy	Uncertain significance	rs199474707	RCV005054321

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Apical Hypertrophic Cardiomyopathy	Associate	35288424
Atrial Fibrillation	Associate	20641121
Cardiomyopathies	Associate	22194935, 35544052, 37477868
Cardiomyopathy Dilated	Associate	26458567
Cardiomyopathy Familial Hypertrophic 1	Associate	26443374
Cardiomyopathy Hypertrophic	Associate	16199542, 20641121, 21896538, 25086479, 25342278, 26443374, 27483260, 28771489, 29914921, 30681346, 35288424, 37431535, 37466024, 37477868, 39340495
Cardiomyopathy Hypertrophic Familial	Associate	22112859, 35288424
Cardiomyopathy Restrictive	Associate	21823217
Colorectal Neoplasms	Associate	9748578
Death Sudden Cardiac	Associate	35288424
Death Sudden Cardiac	Stimulate	37284852
Heart Diseases	Associate	34490485
Hypertrophy	Associate	26443374
Hypertrophy Left Ventricular	Associate	30681346
Iron Overload	Associate	34490485
Muscle Neoplasms	Associate	25531450
Muscular Dystrophies	Associate	24920607
Squamous Cell Carcinoma of Head and Neck	Associate	37679666

MYL3 (myosin light chain 3)